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Journal Abstract Search

839 related items for PubMed ID: 8815483

  • 1. [Fluorescence in situ hybridization in 6 patients with alterations of chromosome 18 and in 7 with marker chromosomes].
    Esmer MC, Carnevale A, Gómez L, del Castillo V, Frías S.
    Rev Invest Clin; 1996; 48(1):27-33. PubMed ID: 8815483
    [Abstract] [Full Text] [Related]

  • 2. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
    Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.
    Genet Couns; 2005; 16(2):129-38. PubMed ID: 16080292
    [Abstract] [Full Text] [Related]

  • 3. Diagnosis of tetrasomy 18p using in situ hybridization of a DNA probe to metaphase chromosomes.
    Park VM, Gustashaw KM, Bilenker RM, Golden WL.
    Am J Med Genet; 1991 Nov 01; 41(2):180-3. PubMed ID: 1785630
    [Abstract] [Full Text] [Related]

  • 4. Identification of marker chromosomes in thirteen patients using FISH probing.
    Daniel A, Malafiej P, Preece K, Chia N, Nelson J, Smith M.
    Am J Med Genet; 1994 Oct 15; 53(1):8-18. PubMed ID: 7802042
    [Abstract] [Full Text] [Related]

  • 5. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype.
    Mewar R, Harrison W, Weaver DD, Palmer C, Davee MA, Overhauser J.
    Am J Med Genet; 1994 Aug 15; 52(2):178-83. PubMed ID: 7802005
    [Abstract] [Full Text] [Related]

  • 6. Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting.
    Coêlho KE, Egashira M, Kato R, Fujimoto M, Matsumoto N, Rerkamnuaychoke B, Abe K, Harada N, Ohashi H, Fukushima Y, Niikawa N.
    Am J Med Genet; 1996 Jun 14; 63(3):468-71. PubMed ID: 8737654
    [Abstract] [Full Text] [Related]

  • 7. Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization.
    Guo WJ, Callif-Daley F, Zapata MC, Miller ME.
    Am J Med Genet; 1995 Sep 11; 58(3):230-6. PubMed ID: 8533823
    [Abstract] [Full Text] [Related]

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  • 10. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.
    Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager HD, Tariverdian G, Brown J, Kearney L, Jauch A.
    Hum Genet; 2002 Jul 11; 111(1):31-9. PubMed ID: 12136233
    [Abstract] [Full Text] [Related]

  • 11. Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies.
    Spikes AS, Hegmann K, Smith JL, Shaffer LG.
    Am J Med Genet; 1995 May 22; 57(1):31-4. PubMed ID: 7645595
    [Abstract] [Full Text] [Related]

  • 12. 18q- and 18q+ mosaicism in a mentally retarded boy.
    Ausems MG, Bhola SL, Post-Blok CA, Hennekam RC, de France HF.
    Am J Med Genet; 1994 Nov 15; 53(3):296-9. PubMed ID: 7856666
    [Abstract] [Full Text] [Related]

  • 13. Use of chromosome painting for marker chromosome identification in two children with congenital disorders.
    Doco-Fenzy M, Navrocki B, Cornillet P, Sabouraud P, Robillard P, Gruson N, Gaillard D, Adnet JJ.
    Bull Assoc Anat (Nancy); 1994 Jun 15; 78(241):9-13. PubMed ID: 8086666
    [Abstract] [Full Text] [Related]

  • 14. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes.
    Bacino CA, Kashork CD, Davino NA, Shaffer LG.
    Am J Med Genet; 2000 Jun 05; 92(4):250-5. PubMed ID: 10842290
    [Abstract] [Full Text] [Related]

  • 15. Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin.
    Hoo JJ, Chao M, Szego K, Rauer M, Echiverri SC, Harris C.
    Am J Med Genet; 1995 Sep 25; 58(4):299-304. PubMed ID: 8533837
    [Abstract] [Full Text] [Related]

  • 16. Molecular and cytogenetic characterization of 9p- abnormalities.
    Teebi AS, Gibson L, McGrath J, Meyn MS, Breg WR, Yang-Feng TL.
    Am J Med Genet; 1993 May 15; 46(3):288-92. PubMed ID: 8488873
    [Abstract] [Full Text] [Related]

  • 17. Prenatal diagnosis of inherited satellited non-acrocentric chromosomes.
    Chen CP, Devriendt K, Chern SR, Lee CC, Wang W, Lin SP.
    Prenat Diagn; 2000 May 15; 20(5):384-9. PubMed ID: 10820405
    [Abstract] [Full Text] [Related]

  • 18. FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes.
    Ballif BC, Kashork CD, Shaffer LG.
    Eur J Hum Genet; 2000 Oct 15; 8(10):764-70. PubMed ID: 11039576
    [Abstract] [Full Text] [Related]

  • 19. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases.
    Batista DA, Pai GS, Stetten G.
    Am J Med Genet; 1994 Nov 15; 53(3):255-63. PubMed ID: 7856662
    [Abstract] [Full Text] [Related]

  • 20. Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.
    Lorda-Sanchez I, Lopez-Pajares I, Roche MC, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibañez A, Ramos C, Ayuso C.
    Am J Med Genet; 2000 Dec 11; 95(4):336-8. PubMed ID: 11186887
    [Abstract] [Full Text] [Related]

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